Details of Disease

General Information of Disease (ID: DISFL3YB)

• Disease Name: Lung lymphangioleiomyomatosis
• Synonyms: pulmonary lymphangiomyomatosis; lymphangioleiomyomatosis; Lymphangioleiomyomatosis; pulmonary lymphangioleiomyomatosis; lung lymphangioleiomyomatosis; lung lymphangiomyomatosis
• Definition: Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course.
• Disease Hierarchy:
  DISZH2IS: Lung PEComa
  DISR0RNB: Lymphangioleiomyomatosis
  DISFL3YB: Lung lymphangioleiomyomatosis
• Disease Identifiers:
  MONDO ID: MONDO_0006277
  UMLS CUI: C0349649
  MedGen ID: 91161
  Orphanet ID: 538
  SNOMED CT ID: 277844007

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Sirolimus	DMGW1ID	Approved	Small molecular drug	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TSC1	OTFF4YZ7	Strong	Autosomal dominant	[2]
TSC2	OT47LWI9	Definitive	Autosomal dominant	[3]

References

• [1] Sirolimus FDA Label
• [2] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [3] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.